ImmunoDeficiency Resource (IDR)

Defects in TNFRSF13B are a cause of common variable immunodeficiency and selective deficiency of immunoglobulin A (IgA). TNFRSF13B encodes the transmembrane activator and CAML interactor (TACI). CVID is characterized by a deficiency in all immunoglobulin (Ig) isotypes. There is evidence for a global isotype switching defect in some individuals with CVID. CVID is a complex and heterogeneous disease in which defects in B-cell survival, number of circulating Cd27+ memory B-cells, B-cell activation after antigen receptor cross-linking, T-cell signaling and cytokine expression have been observed. Individuals with symptomatic IgAD and individuals with CVID suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and nonlymphoid malignancies. IgAD and CVID can coexist in families, and some individuals initially present with IgAD and then develop CVID.